Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.
ZFPM1 gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).
ZFPM1 plays an essential role in red blood cell production. Interaction of ZFPM1 with GATA1 is essential for the function of GATA1 in red blood cell growth .
STIL (SCL/TAL1 interrupting locus)
EKLF1 (Erythroid Kruppel-like Factor 1)
EKLF participates in the production of adult globin chains .
The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications .
EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival .
Defects in the EPOR may produce erythroleukemia and familial erythrocytosis (an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots) [27, 28].